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389 Possible Causes for Macrocephaly, Round Face, Umbilical Hernia

  • Mucopolysaccharidosis 2

    The boy’s past history included an umbilical hernia ( Figure 2 ) and chronic otitis media requiring myringotomy tube insertion and adenoidectomy, with conductive hearing loss[consultant360.com] […] resulting in large rounded cheeks and thick lips – generally manifests between ages 18 months and four years in the early progressive form and about two years later for those[ncbi.nlm.nih.gov] Other symptoms may include carpal tunnel syndrome, coarse facial features, deafness, hairy body (hypertrichosis), joint stiffness, and a large head (macrocephaly).[secure.ssa.gov]

  • Mucopolysaccharidosis

    The diagnosis is commonly established between 4 and 18 months of age, as infant can appear normal at birth (or presenting with inguinal or umbilical hernias only).[news-medical.net] The patient had severe infantile global neurodevelopmental delays, macrocephaly with a prominent forehead, coarse facial features with clear corneas, chronic congestion with[ncbi.nlm.nih.gov] Children with MPS I often have no signs or symptoms of the condition at birth, although some have a soft out-pouching around the belly-button (umbilical hernia) or lower abdomen[ghr.nlm.nih.gov]

  • Mucopolysaccharidosis 1

    Umbilical hernias and inguinal hernias. Joint stiffness and skeletal deformities. Cardiomyopathy and coronary heart disease. Hepatosplenomegaly.[patient.info] Symptoms include, macrocephaly, excessive accumulation of fluid in the brain, hepatosplenomegaly, sleep apnea, cornea clouding, spinal cord compression and cognitive impairment[raredr.com] Some symptoms (hernia, macrocephaly, respiratory infections, and limited hip abduction) become apparent early in infancy but the complete clinical picture develops during[icd10data.com]

  • Weaver Syndrome

    hernia, and hoarse low-pitched cry.[ncbi.nlm.nih.gov] , round face, abnormal positioning of the jaw, and a prominent chin with a central dimple.[medindia.net] A boy with primordial overgrowth, macrocephaly, and anomalies of the face, nails, feet and skeleton is reported.[ncbi.nlm.nih.gov]

  • Aarskog Syndrome

    Less often, they have undescended testes (cryptorchidism) or a soft out-pouching around the belly-button (umbilical hernia) or in the lower abdomen (inguinal hernia).The intellectual[en.wikipedia.org] Individuals with the Aarskog syndrome have shortness of stature, round face, hypertelorism, short fingers and hands, and flat feet; males have a shawl scrotum.[ncbi.nlm.nih.gov] Abstract The Aarskog syndrome or facio-genital dysplasia (FGDY, MIM No. 305400) is an X-linked condition characterized by short stature, macrocephaly, facial, genital and[ncbi.nlm.nih.gov]

  • Simpson Dysmorphia Syndrome

    hernia ), and skeletal anomalies. [3] [4] Some people with the condition have a mild to severe intellectual disability.[rarediseases.info.nih.gov] , round face, hypoplastic supraorbital ridge, epicanthus, cleft palate TM Diastrophic dysplasia sulfate transporter DTDST 5q32-q33.1 222600 Diastrophic dysplasia 222600 AR[widesmiles2.org] We report on 2 brothers with overgrowth, macrocephaly, polydactyly, supernumerary nipples, and characteristic facial appearance.[ncbi.nlm.nih.gov]

  • Robinow Syndrome

    Umbilical hernia (32.3%) and supernumerary teeth (10.3%) were found exclusively in patients with the dominant form. (c) 2007 Wiley-Liss, Inc.[ncbi.nlm.nih.gov] Facial Abnormalities Rounded face with a broad forehead Widely spaced eyes (hypertelorism) Drooping of the eyelids (ptosis) Downwardly slanting eyelid folds Small nose with[medcaretips.com] The daughter had short stature, macrocephaly, hypertelorism, hepatosplenomegaly, short forearms and marked vertebral anomalies.[ncbi.nlm.nih.gov]

  • Kniest Dysplasia

    hernia 0001537 Showing of 53 Last updated: 5/1/2019 Making a diagnosis for a genetic or rare disease can often be challenging.[rarediseases.info.nih.gov] The patient displayed macrocephaly with increased size of the neurocranium in all three dimensions.[ncbi.nlm.nih.gov] He was dysmorphic (fig 2) with macrocephaly, hypertelorism, depressed nasal bridge, low set ears, micrognathia, and a posterior submucous cleft of the palate.[jmg.bmj.com]

  • Spondyloepiphyseal Dysplasia Type Cantú

    Pseudodiastrophic dysplasia 0 *Dwarfism *Heart Defects, Congenital *Hernia, Umbilical.[reference.md] : long philtrum round face midface hypoplasia coarse facies Skeletal Hands: brachydactyly short hands small carpals short, tapered phalanges single interphalangeal crease[malacards.org] […] dysplasia Laplane Fontaine Lagardere syndrome Laron Syndrome GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY Laron syndrome type 2 Megaepiphyseal dwarfism Mental retardation, macrocephaly[sites.google.com]

  • Hypertrichotic Osteochondrodysplasia

    Symptoms of Hypertrichotic osteochondrodysplasia Clinical features : Imported from Human Phenotype Ontology (HPO) Abnormality of connective tissue Umbilical hernia Abnormality[familydiagnosis.com] face-developmental delay syndrome Congenital joint dislocations Congenital knee dislocation Congenital limb malformation Congenital muscular dystrophy with cerebellar involvement[se-atlas.de] Clinical description Dysmorphic features include macrocephaly and a coarse facial appearance with thick eyebrows, prominent supraorbital ridges, broad nasal bridge, anteverted[orpha.net]

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